8 citations
,
December 2022 in “International journal of molecular sciences” This review discusses phenotypic differences in testosterone production between mice and humans with HSD17B3 deficiency and reports no new findings; the authors highlight potential pathways and enzymes involved in testosterone synthesis.
1 citations
,
January 2017 in “Tohoku journal of experimental medicine” This study reports the first case of ovarian mature cystic teratoma linked to clinical virilization due to ectopic testosterone production, possibly from overexpression of the enzyme HSD17B5.
August 2025 in “American Journal of Case Reports” In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.
70 citations
,
April 2014 in “Annales d'endocrinologie” This review discusses the pathways of androgen biosynthesis and reports no new findings, highlighting the need to understand the interplay between the classic and backdoor pathways.
23 citations
,
February 2020 in “PLOS genetics” This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.
October 2022 in “Endocrine journal” In this study of male patients with 46,XY 5α-reductase type 2 deficiency, DHT therapy was effective in achieving penile enlargement during infancy, while testosterone replacement therapy proved more beneficial during puberty, possibly due to increased conversion to DHT.
September 2021 in “Research Square (Research Square)” This study found that measuring specific steroid hormone levels can aid in diagnosing P450 oxidoreductase deficiency, a subtype of congenital adrenal hyperplasia, by distinguishing affected patients from healthy individuals.
157 citations
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May 2021 in “Endocrine Reviews” This review discusses recent advancements in understanding and managing congenital adrenal hyperplasia, including improvements in screening, diagnostics, and potential genetic and cell-based treatments, but reports no new clinical findings.
88 citations
,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” This review discusses the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia, but reports no new research results.
16 citations
,
September 2008 in “Dermatologic Therapy” This review discusses the clinical features, genetics, and treatment of 21-hydroxylase deficiency, a common type of congenital adrenal hyperplasia, and reports no new research findings.
41 citations
,
March 2016 in “The Journal of Clinical Endocrinology & Metabolism” This study suggests that patients with STSD show a different pattern in androgen activation compared to healthy controls, potentially due to increased 5α-reductase activity and absent prepubertal serum DHEA surge.
46 citations
,
August 2006 in “PubMed” In this study, researchers identified and examined males with 17 beta-HSD3 deficiency in a highly inbred Arab population, noting genetic findings and the progression of male characteristics despite being raised as females initially.
13 citations
,
June 2024 in “Frontiers in Genetics” This review examined genetic factors in 46, XY differences/disorders of sex development and found that whole-exome sequencing is more effective than panel sequencing for molecular diagnosis. It identified regional genetic variation and emphasized next-generation sequencing's role in detecting variants related to gonadal and androgen-related genes.
January 2023 in “Theranostics” This study reported that a curcumin-zinc microneedle patch improved hair regrowth and wound healing in animal models, suggesting potential as a versatile treatment for hair loss.
35 citations
,
May 2022 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” This review discusses the current understanding of androgen biosynthesis, mechanisms of action, and their roles in human biology, as well as related congenital and acquired disorders, but it reports no new research findings.
5 citations
,
January 2017 in “Endocrinology” This chapter reviews the biosynthesis, mechanism of action, and therapeutic effects of testosterone and related androgens, but reports no new research findings.
1 citations
,
January 2009 in “Trepo - Institutional Repository of Tampere University” This study found that vitamin D regulates cholesterol metabolism and may influence prostate cancer development through mechanisms affecting prostate cell growth and sex hormone metabolism.
25 citations
,
June 2014 in “Journal of Endocrinology/Journal of endocrinology” This study found that local androgen biosynthesis and metabolism in human sebaceous glands play a crucial role in sebum synthesis and secretion.
54 citations
,
April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” This review discusses 46,XY disorders of sex development caused by defects in androgen production and highlights the need for long-term care from experienced multidisciplinary teams, but it reports no new clinical findings.
45 citations
,
January 2012 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that overexpression of AKR1C3 in prostate cancer cells redirected androgen metabolism towards testosterone production, which facilitated cell proliferation, potentially reducing the effectiveness of finasteride treatment.
November 2016 in “Elsevier eBooks” This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.
1 citations
,
May 2018 in “Clinical chemistry” This case report described a 9-year-old girl initially suspected to have complete androgen insensitivity syndrome, whose laboratory tests later suggested an alternative diagnosis involving atypical steroid metabolism patterns and hormonal responses.
103 citations
,
October 2003 in “Birth Defects Research” This review discusses the multifactorial etiology of hypospadias, including genetic predispositions and possible environmental factors, and highlights the need for further studies on genetic and environmental contributions to its increasing prevalence, without presenting new findings.
48 citations
,
February 2013 in “Molecular and Cellular Endocrinology” This review discusses the presence of the StAR protein in 17 non-classical steroidogenic tissues, suggesting that advanced detection methods are needed for a complete understanding of its functions in these tissues.
31 citations
,
June 2015 in “British Journal of Dermatology” Hormonal treatments are effective as a second-line option for moderate-to-severe acne in females, but should be used with caution due to health risks.
April 2026 in “Communications Biology” In this study of Danioninae species, researchers reported that the presence of breeding tubercles on the pectoral fins is conserved in certain species and linked to local androgen conversion, with steroid 5-α-reductase playing a crucial role in their development.
December 2023 in “Frontiers in endocrinology” This review explores the role of hyperandrogenism, including adrenal-derived 11-oxygenated androgen, in the development of polycystic ovarian syndrome and discusses potential therapeutic strategies targeting androgen excess, without reporting new clinical results.
July 2021 in “Advances in laboratory medicine” This article reviews differential diagnosis approaches for 46,XY DSD, proposing a diagnostic algorithm focused on biochemical and genetic data, without presenting new clinical results.
December 2016 in “University of Birmingham Institutional Research Archive (University of Birmingham)” This study suggests that the adrenal gland may contribute to prostate cancer treatment resistance and indicates potential steroid production or dependency in ovarian cancer.
December 2015 in “University of Birmingham Institutional Research Archive (University of Birmingham)” This study showed that regulation of adipose androgen generation via AKR1C3 may contribute to a cycle of hyperinsulinaemia and lipid accumulation in women with PCOS.